Article
LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia.
Clinical genetics - 1 Jun 2002
Brorholt-Petersen J U, Jensen H K, Jensen J M, Refsgaard J, Christiansen T, Hansen L B, Gregersen N, Faergeman O
Abstract excerpt
Patients with homozygous familial hypercholesterolaemia (FH) caused by receptor-negative, low-density lipoprotein (LDL) receptor gene mutations have higher concentrations of LDL-cholesterol in plasma and earlier onset of cardiovascular disease (CVD) than patients homozygous for receptor-defective, LDL receptor mutations. In contrast, it is uncertain whether the severity of atherosclerotic disease differs in...
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